Clinical spectrum of phaeochromocytoma syndromes are very heterogeneous. Sometimes life threatening hypertensive attacks may be the presenting symptom or the clinical picture may be subtle that a nonspecific symptom like fatigue can lead to diagnosis. We herein present two phaeochromocytoma cases with distinct clinical features.
Case 1: A 20-year-old female patient admitted to emergency department with blurred vision and headache. She experienced headache for 3 years and once she had a seizure and lost consciousness for 4 h. During the course blurred vision recurred and examination revealed papilledema and retinal haemorrhage. Thorax CT-angiography performed for a presumptive diagnosis of Takayasus arteritis revealed a 3.5-cm right adrenal mass, and she was referred to our endocrinology clinic. She was hypertensive, and urinary catecholamines were very high. She had no family history of phaeochromocytoma and work-up for hereditary syndromes were negative. After preoperative preparation, she was successfully operated. Histopathological examination was compatible with phaeochromocytoma.
Case-2: 30-year-old male patient was evaluated by his family physician because of fatigue. He was anxious as his father died of metastatic brain cancer. His laboratory evaluation revealed slightly elevated carcinoembryonic antigen. Endoscopic examination of the gastrointestinal tract was normal, but abdominal ultrasound showed 6-cm pancreatic and adrenal mass lesions, and MRI showed bilateral adrenal mass. His blood pressure was 130/90 mmHg. He did not have a history of hypertension, but he described occasional headaches. His urinary catecholamines were very high. Calcitonin level was 34.8 ng/ml. He underwent bilateral adrenalectomy, and pathologic examination confirmed phaeochromocytoma. RET protooncogen was positive, and total thyroidectomy revealed multifocal medullary thyroid cancer.
Conclusion: Even fatigue can be the presenting symptom of MEN2A, and clinical picture does not correlate with the extent of disease in phaeochromocytoma syndromes.